Canonical Allele Identifier: PA2825058434
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773346
ClinVar RCV Id: RCV003528029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1402Ser
CA392319870
NM_000138.5:c.4205G>C
CA392319903
NM_000138.5:c.4204T>A